[Genetic Analysis, Prenatal Diagnosis and Preimplantation Genetic Diagnosis of Taiwanese Deletion ß-Thalassemia].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
; 27(5): 1585-1591, 2019 Oct.
Article
em Zh
| MEDLINE
| ID: mdl-31607316
ABSTRACT
OBJECTIVE:
To perform genetic analysis, prenatal diagnosis and preimplantation genetic diagnosis (PGD) in a family with a rare deletional ß- thalassemia.METHODS:
Hematological parameters of the peripheral blood collected from all the family members were analyzed by whole blood cell analysis and capillary zone electrophoresis (CZE). Polymerase chain reaction-reverse dot blot (PCR-RDB) was used to identify 17 common ß- thalassemia gene mutations, the multiplex ligation-dependent probe amplification (MLPA) and gap-polymerase chain reaction (gap-PCR) were used to identify ß- globin gene cluster deletions. Chorionic villus sample or umbilical cord blood was obtained for prenatal diagnosis. Oligo-cells from blastocyst biopsy were collected for preimplantation genetic diagnosis by whole genome amplification and next generation sequencing.RESULTS:
The proband was a carrier of Taiwanese deletion ß- thalassemia, two fetuses were both thalassemia majors. The PGD results showed that 6 of 11 tested embryos could be choose for transplantation.CONCLUSION:
The Taiwanese deletion is a rare type deletion of ß- globin gene cluster, and it can lead to thalassemia intermedia or thalassemia major when compounded with other ß- globin gene mutation. PGD is another choice for thalassemia couples.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Talassemia beta
/
Diagnóstico Pré-Implantação
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Pregnancy
Idioma:
Zh
Revista:
Zhongguo Shi Yan Xue Ye Xue Za Zhi
Assunto da revista:
HEMATOLOGIA
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
China